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Genes:
A1CF, ABCC2, ABLIM1, AC022400.2, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADO, AFAP1L2, AGAP6, AIFM2, AKR1C4, ANK3, ANKRD22, ANKRD30A, ANXA11, ANXA7, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARMC3, ARMC4, ATE1, ATP5C1, AVPI1, BAG3, BEND7, BMPR1A, BTBD16, C10ORF68, C10orf105, C10orf118, C10orf120, C10orf128, C10orf129, C10orf53, C10orf71, CACNB2, CACUL1, CALHM1, CALML3, CASP7, CCDC147, CCDC6, CCDC7, CCSER2, CDH23, CDHR1, CHAT, CHST15, CNNM2, COL13A1, COL17A1, CPEB3, CPXM2, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUL2, CYP17A1, DCLRE1C, DHTKD1, DHX32, DIP2C, DLG5, DNA2, DNAJC12, DNAJC9, DNMBP, DOCK1, DUPD1, DUSP13, DUSP5, DYDC2, EBLN1, ECD, ECHDC3, ECHS1, ELOVL3, ENO4, ERCC6, ERLIN1, FAM160B1, FAM170B, FAM171A1, FAM175B, FAM196A, FAM25A, FANK1, FAS, FBXO18, FGFR2, FRA10AC1, FRG2B, GAD2, GBF1, GJD4, GLRX3, GLUD1, GPRIN2, GSTO1, HABP2, HERC4, HHEX, HK1, HKDC1, HPS1, IDE, IDI2, IFIT2, IFIT3, INA, INPP5A, INPP5F, IPMK, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KCNMA1, KIAA1217, KIAA1462, KIAA1598, KIF20B, KNDC1, LBX1, LDB3, LIPA, LIPF, LIPK, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MBL2, MCM10, MCMBP, METTL10, MINPP1, MKI67, MKX, MMRN2, MMS19, MORN4, MRC1, MRC1L1, MRPL43, MTRNR2L5, MXI1, MYO3A, MYOF, NEBL, NEURL1, NEUROG3, NHLRC2, NKX2-3, NOC3L, NPY4R, NRAP, NRP1, NUDT5, NUTM2D, OAT, OBFC1, OGDHL, OPTN, OTUD1, PALD1, PANK1, PBLD, PCDH15, PDCD11, PDCD4, PDE6C, PDLIM1, PFKP, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PLAU, PLCE1, PLEKHS1, PNLIPRP1, POLL, PRAP1, PRF1, PRKCQ, PROSER2, PTCHD3, PTF1A, PTPLA, PTPRE, PWWP2B, R3HCC1L, RBM20, REEP3, RHOBTB1, RNLS, RRP12, RSU1, RTKN2, SEC31B, SEC61A2, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SH3PXD2A, SIRT1, SLC16A9, SLC29A3, SLC39A12, SLIT1, SMC3, SORCS1, SPAG6, SRGN, STK32C, STOX1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TCTN3, TECTB, TET1, TEX36, THNSL1, TLL2, TM9SF3, TMEM254, TMEM26, TNKS2, TRDMT1, TTC18, TTC40, TUBB8, TUBGCP2, TYSND1, UNC5B, UPF2, USP54, USP6NL, VENTX, VIM, VPS26A, VWA2, WDFY4, WDR11, WDR96, WNT8B, ZNF248, ZNF25, ZNF33A, ZNF33B, ZNF365, ZNF438, ZNF485,

Genes at Omim

ABCC2, ACADSB, AKR1C4, ANK3, ANXA11, ARMC4, BAG3, BMPR1A, CACNB2, CDH23, CDHR1, CHAT, CNNM2, COL13A1, COL17A1, CTNNA3, CUBN, CYP17A1, DCLRE1C, DHTKD1, DNA2, DNAJC12, ECHS1, ERCC6, ERLIN1, FAS, FGFR2, GLUD1, HABP2, HK1, HPS1, KAT6B, KCNMA1, LDB3, LIPA, LIPN, MBL2, MINPP1, MXI1, MYO3A, NEUROG3, NHLRC2, OAT, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PRF1, PTF1A, RBM20, SFTPA2, SGPL1, SLC29A3, SMC3, STOX1, SYCE1, TCTN3, TUBB8, VIM, WDR11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis, juvenile intestinal, 174900 (3)
CACNB2 Brugada syndrome 4, 611876 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
?Seckel syndrome 8, 615807 (3)
DNAJC12 Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
ERLIN1 Spastic paraplegia 62, 615681 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
GLUD1 Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LIPA Cholesteryl ester storage disease, 278000 (3)
Wolman disease, 278000 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MINPP1 {Thyroid carcinoma, follicular}, 188470 (3)
MXI1 Neurofibrosarcoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NHLRC2 FINCA syndrome, 618278 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SYCE1 ?Premature ovarian failure 12, 616947 (3)
?Spermatogenic failure 15, 616950 (3)
TCTN3 Joubert syndrome 18, 614815 (3)
Orofaciodigital syndrome IV, 258860 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
VIM Cataract 30, pulverulent, 116300 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ARMC4, BAG3, BMPR1A, CACNB2, CDH23, CDHR1, CHAT, CNNM2, COL13A1, COL17A1, CTNNA3, CUBN, CYP17A1, DCLRE1C, DHTKD1, DNA2, ECHS1, ERCC6, ERLIN1, FAS, FGFR2, GLUD1, HABP2, HK1, HPS1, IPMK, KAT6B, KCNMA1, LDB3, LIPA, LIPN, MBL2, MYO3A, NEUROG3, OAT, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PRF1, PTF1A, RBM20, SFTPA2, SLC29A3, SMC3, SYCE1, TCTN3, TUBB8, VIM, WDR11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BMPR1A Polyposis syndrome, hereditary mixed, 2
Polyposis, juvenile intestinal
CACNB2 Brugada syndrome 4
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CNNM2 Hypomagnesemia 6 ,renal
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DNA2 Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
Seckel syndrome 8
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERLIN1 Spastic paraplegia 62, autosomal recessive
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
GLUD1 Hyperinsulinemic hypoglycemia, familial
Hyperammonemia-hyperinsulinism
HABP2 Thyroid cancer, nonmedullary 5
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1 Hermansky-Pudlak syndrome 1
IPMK Small intestinal carcinoid, hereditary
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LIPA Cholesterol ester storage disease
Wolman disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MBL2 Mannose-binding protein deficiency
MYO3A Deafness, autosomal recessive 30
NEUROG3 Diarrhea 4, malabsorptive, congenital
OAT Gyrate atrophy of choroid and retina
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
SFTPA2 Pulmonary fibrosis, idiopathic
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SYCE1 Premature ovarian failure 12
TCTN3 Joubert syndrome 18
Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8 Oocyte maturation defect 2
VIM Cataract 30
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome

Genes at HGMD

Summary

Number of Variants: 1353
Number of Genes: 280

Export to: CSV

A1CF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 . 52610449 367.01 G A PASS 0/1 158 None None None None None None None None None A1CF|0.301078858|27.59%
View manuela_niro 10 rs181537708
dbSNP Clinvar
52601645 254.7 C G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00008 0.07 0.46 None None None None None None A1CF|0.301078858|27.59%

ABCC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3740066
dbSNP Clinvar
101604207 241.35 C T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%

ABLIM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs985273
dbSNP Clinvar
116335246 442.82 G A PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.30451 0.30450 0.26695 None None None None None None ABLIM1|0.44358146|18.51%

AC022400.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs149787867
dbSNP Clinvar
75531945 71.87 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.01378 0.01378 0.00 None None None None None None None

ACADSB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs12263012
dbSNP Clinvar
124768583 41.92 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.20607 0.20610 0.27423 0.96 0.01 None None None None None None ACADSB|0.041043879|65.42%
View manuela_niro 10 rs1131430
dbSNP Clinvar
124806770 631.17 A G PASS 0/1 287 NON_SYNONYMOUS_CODING MODERATE None 0.03894 0.03894 0.07051 1.00 0.01 None None None None None None ACADSB|0.041043879|65.42%

ACBD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs7918793
dbSNP Clinvar
27497191 141.85 G A PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.07288 0.07288 0.05951 0.05 0.18 None None None None None None ACBD5|0.116795914|47.98%

ADAM12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1044122
dbSNP Clinvar
127724778 455.1 A G PASS 0/1 238 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.24904 None None None None None None ADAM12|0.075293986|56.23%

ADAM8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3008319
dbSNP Clinvar
135077265 777.37 A G PASS 0/1 314 NON_SYNONYMOUS_CODING MODERATE None 0.06809 0.06809 0.07714 0.18 0.39 None None None None None None ADAM8|0.004556093|86.35%
View manuela_niro 10 rs1131720
dbSNP Clinvar
135085321 38.35 C T PASS 1/1 5 SYNONYMOUS_CODING LOW None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs12774070
dbSNP Clinvar
72513635 354.3 C A PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.16014 0.16010 0.19512 0.01 0.93 None None None None None None ADAMTS14|0.04385867|64.56%

ADARB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs201071907
dbSNP Clinvar
1313220 772.03 G A PASS 0/1 328 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00054 None None None None None None ADARB2|0.14627916|43.56%

ADO

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2236295
dbSNP Clinvar
64564892 284.55 G T PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.21166 0.21170 0.26402 0.09 0.53 None None None None None None ADO|0.461596231|17.6%
View manuela_niro 10 rs10995311
dbSNP Clinvar
64564934 358.01 C G PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.30918 0.16 0.02 None None None None None None ADO|0.461596231|17.6%

AFAP1L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs621375
dbSNP Clinvar
116073801 773.23 T C PASS 0/1 374 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs61848260
dbSNP Clinvar
51748684 22.75 G A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.50020 0.50020 0.17 0.00 None None None None None None AGAP6|0.003119632|88.45%

AIFM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2271694
dbSNP Clinvar
71874784 394.83 C T PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.06589 0.06589 0.00823 0.53 0.01 None None None None None None AIFM2|0.142363482|44.1%
View manuela_niro 10 rs2271696
dbSNP Clinvar
71874683 234.03 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.14177 0.14180 0.10357 None None None None None None AIFM2|0.142363482|44.1%
View manuela_niro 10 rs2271695
dbSNP Clinvar
71874734 261.52 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.10426 None None None None None None AIFM2|0.142363482|44.1%
View manuela_niro 10 rs10999147
dbSNP Clinvar
71880858 274.21 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.06659 0.00 0.03 None None None None None None AIFM2|0.142363482|44.1%

AKR1C4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3829125
dbSNP Clinvar
5247784 547.87 C G PASS 0/1 327 NON_SYNONYMOUS_CODING MODERATE None 0.10284 0.10280 0.11433 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View manuela_niro 10 rs17306779
dbSNP Clinvar
5242164 281.87 A G PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%
View manuela_niro 10 rs17134592
dbSNP Clinvar
5260682 101.78 C G PASS 0/1 77 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10244 0.10240 0.11426 0.25 0.00 None None None None None None AKR1C4|0.002829069|88.97%

ANK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs10740006
dbSNP Clinvar
61831744 183.78 A G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.12600 0.12600 0.19053 None None None None None None ANK3|0.919303788|3%
View manuela_niro 10 rs967088925
dbSNP Clinvar
61958141 245.77 G A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.07 None None None None None None ANK3|0.919303788|3%
View manuela_niro 10 rs10821668
dbSNP Clinvar
61831271 476.42 T C PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.12580 0.12580 0.18991 0.96 None None None None None None ANK3|0.919303788|3%
View manuela_niro 10 rs3802696
dbSNP Clinvar
61833499 148.57 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.04273 0.04273 0.00177 None None None None None None ANK3|0.919303788|3%

ANKRD22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs7893917
dbSNP Clinvar
90585819 403.44 G A PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.32816 None None None None None None ANKRD22|0.085075807|54.17%

ANKRD30A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1200876
dbSNP Clinvar
37505141 114.53 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.12780 0.12780 0.17447 0.69 0.04 None None None None None None ANKRD30A|0.001436042|93.14%
View manuela_niro 10 rs1200875
dbSNP Clinvar
37505192 119.31 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.12899 0.12900 0.17483 0.00 0.02 None None None None None None ANKRD30A|0.001436042|93.14%
View manuela_niro 10 rs57914746
dbSNP Clinvar
37505179 156.1 T C PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.15875 0.15870 0.21071 None None None None None None ANKRD30A|0.001436042|93.14%
View manuela_niro 10 rs34552277
dbSNP Clinvar
37505159 157.89 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.22764 0.22760 0.28179 0.16 0.81 None None None None None None ANKRD30A|0.001436042|93.14%

ANXA11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1049550
dbSNP Clinvar
81926702 1789.06 G A PASS 1/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.33923 0.02 1.00 None None None None None None ANXA11|0.080075284|55.15%

ANXA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2234965
dbSNP Clinvar
75148116 126.72 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.17652 0.17650 0.09403 None None None None None None ANXA7|0.358966366|23.51%

ARHGAP12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2799021
dbSNP Clinvar
32141460 46.83 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.23183 0.23180 0.16892 None None None None None None ARHGAP12|0.284417118|28.76%
View manuela_niro 10 rs2808100
dbSNP Clinvar
32120678 137.24 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.24181 0.24180 0.17105 None None None None None None ARHGAP12|0.284417118|28.76%
View manuela_niro 10 rs2808096
dbSNP Clinvar
32128611 25.37 A G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.23183 0.23180 0.16877 0.49 0.00 None None None None None None ARHGAP12|0.284417118|28.76%
View manuela_niro 10 rs41289019
dbSNP Clinvar
32143044 177.63 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.01868 None None None None None None ARHGAP12|0.284417118|28.76%

ARHGAP19

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs34038589
dbSNP Clinvar
99003811 182.14 G A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00938 0.00939 0.01538 0.01 0.02 None None None None None None ARHGAP19-SLIT1|0.508518585|15.45%,ARHGAP19|0.371362941|22.63%

ARHGAP21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3748222
dbSNP Clinvar
24908686 693.85 T C PASS 0/1 380 NON_SYNONYMOUS_CODING MODERATE None 0.43830 0.43830 0.49047 1.00 0.01 None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1867586
dbSNP Clinvar
49658943 138.95 G T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.02276 0.02276 0.03069 0.59 0.00 None None None None None None ARHGAP22|0.033591165|67.92%

ARID5B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs76296217
dbSNP Clinvar
63829539 89.03 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.02137 0.02137 0.05651 None None None None None None ARID5B|0.90719341|3.3%

ARMC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs60713513
dbSNP Clinvar
23326302 567.23 T C PASS 0/1 555 NON_SYNONYMOUS_CODING MODERATE None 0.01358 0.01358 0.01522 0.72 0.00 None None None None None None ARMC3|0.037067211|66.75%

ARMC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs4405206
dbSNP Clinvar
28260151 478.02 A G PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.13478 0.13480 0.07274 0.37 0.00 None None None None None None ARMC4|0.02617115|71.23%
View manuela_niro 10 rs35472668
dbSNP Clinvar
28228926 143.72 C T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.01530 0.14 0.97 None None None None None None ARMC4|0.02617115|71.23%
View manuela_niro 10 rs35242712
dbSNP Clinvar
28224075 24.7 G A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.07488 0.07488 0.01499 0.03 0.00 None None None None None None ARMC4|0.02617115|71.23%

ATE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs35350755
dbSNP Clinvar
123549691 973.37 T G PASS 0/1 383 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.45648 None None None None None None ATE1|0.12976795|45.9%

ATP5C1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs115685757
dbSNP Clinvar
7844767 188.7 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00899 0.00899 0.00815 None None None None None None ATP5C1|0.438289363|18.76%

AVPI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2275047
dbSNP Clinvar
99439541 882.59 G C PASS 0/1 376 NON_SYNONYMOUS_CODING MODERATE None 0.50819 0.50820 0.48086 0.54 0.00 None None None None None None AVPI1|0.049222593|62.9%

BAG3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3858339
dbSNP Clinvar
121436068 39.29 T G PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.15575 0.15580 0.11610 None None None None None None BAG3|0.07885075|55.47%
View manuela_niro 10 rs3858340
dbSNP Clinvar
121436286 401.56 C T PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.15555 0.15560 0.11572 0.06 0.00 None None None None None None BAG3|0.07885075|55.47%

BEND7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 . 13534715 664.82 C G PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.03 None None None None None None BEND7|0.19658774|37.1%
View manuela_niro 10 rs2251555
dbSNP Clinvar
13534851 964.75 A G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.44671 None None None None None None BEND7|0.19658774|37.1%

BMPR1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs11528010
dbSNP Clinvar
88635779 1040.55 C A PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.49980 0.49980 0.38951 1.00 0.00 None None None None None None BMPR1A|0.266176156|30.17%

BTBD16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1048347
dbSNP Clinvar
124096061 596.89 A C PASS 0/1 246 NON_SYNONYMOUS_CODING MODERATE None 0.45927 0.45930 0.33438 1.00 0.00 None None None None None None BTBD16|0.010433592|80.54%
View manuela_niro 10 rs1129973
dbSNP Clinvar
124096041 586.59 T C PASS 0/1 252 SYNONYMOUS_CODING LOW None 0.45967 0.45970 0.33515 None None None None None None BTBD16|0.010433592|80.54%
View manuela_niro 10 rs3817281
dbSNP Clinvar
124096035 592.72 T C PASS 0/1 247 SYNONYMOUS_CODING LOW None 0.45927 0.45930 0.33192 None None None None None None BTBD16|0.010433592|80.54%

C10orf105

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs200093795
dbSNP Clinvar
73476021 249.62 G A PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00153 0.01 0.50 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%

C10orf118

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs7095762
dbSNP Clinvar
115910928 202.88 G T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.20727 0.20730 0.26280 1.00 0.00 None None None None None None CCDC186|0.201435874|36.59%
View manuela_niro 10 rs1061159
dbSNP Clinvar
115922774 111.86 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.20727 0.20730 0.26288 0.61 0.00 None None None None None None CCDC186|0.201435874|36.59%
View manuela_niro 10 rs12782946
dbSNP Clinvar
115922492 233.03 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.03115 0.03115 0.06168 0.65 0.00 None None None None None None CCDC186|0.201435874|36.59%

C10orf120

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2901343
dbSNP Clinvar
124457906 214.64 C T PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.41350 None None None None None None C10orf120|0.00064322|97.59%
View manuela_niro 10 rs11813597
dbSNP Clinvar
124459139 212.75 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.44589 0.44590 0.41419 None None None None None None C10orf120|0.00064322|97.59%
View manuela_niro 10 rs41448048
dbSNP Clinvar
124459248 162.29 G T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.07149 0.07149 0.05820 0.90 0.02 None None None None None None C10orf120|0.00064322|97.59%

C10orf128

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs45563932
dbSNP Clinvar
50374930 1434.52 C T PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.07947 0.07947 0.16917 None None None None None None C10orf128|0.001697215|91.89%

C10orf129

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs11188225
dbSNP Clinvar
96954360 604.61 T A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.19728 0.19730 0.28406 0.36 0.00 None None None None None None ACSM6|0.00147864|92.86%

C10orf53

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1133837
dbSNP Clinvar
50901938 164.08 C T PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C10ORF68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2504011
dbSNP Clinvar
33137551 166.88 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.35334 0.02 0.00 None None None None None None None
View manuela_niro 10 rs11009107
dbSNP Clinvar
33123774 140.45 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.21905 0.21900 0.35105 None None None None None None None

C10orf71

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs12411843
dbSNP Clinvar
50534862 83.5 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.30371 0.30370 0.27530 None None None None None None C10orf71|0.00488492|85.95%

CACNB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2228645
dbSNP Clinvar
18828371 865.18 C T PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.23722 0.23720 0.17753 None None None None None None CACNB2|0.445418011|18.41%

CACUL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs12440
dbSNP Clinvar
120446114 319.86 A G PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.04133 0.04133 0.04131 None None None None None None CACUL1|0.337540568|25%

CALHM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs41287500
dbSNP Clinvar
105215091 196.31 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.01018 0.01018 0.01600 0.47 0.00 None None None None None None CALHM1|0.140063286|44.38%
View manuela_niro 10 rs41287502
dbSNP Clinvar
105215216 313.89 C A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.01018 0.01018 0.01684 0.02 0.33 None None None None None None CALHM1|0.140063286|44.38%
View manuela_niro 10 rs4918016
dbSNP Clinvar
105218254 573.43 C T PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.30371 0.30370 0.28291 None None None None None None CALHM1|0.140063286|44.38%

CALML3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1142825
dbSNP Clinvar
5567366 414.85 G A PASS 0/1 183 SYNONYMOUS_CODING LOW None 0.41833 0.41830 0.32147 None None None None None None CALML3|0.047764916|63.41%

CASP7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs11555408
dbSNP Clinvar
115457264 484.09 T G PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.10563 0.10560 0.11026 0.10 0.01 None None None None None None CASP7|0.037176422|66.73%

CCDC147

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs11192036
dbSNP Clinvar
106152111 200.18 T A PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.23654 0.43 0.10 None None None None None None CFAP58|0.13728566|44.81%

CCDC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1053266
dbSNP Clinvar
61552692 221.6 G T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.43530 0.43530 0.42234 0.12 0.00 None None None None None None CCDC6|0.392303176|21.24%

CCDC7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs12268559
dbSNP Clinvar
32856746 85.64 A C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.16534 0.16530 0.08374 0.06 0.31 None None None None None None CCDC7|0.005449004|85.28%
View manuela_niro 10 rs56391924
dbSNP Clinvar
32745248 204.27 A C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.14097 0.14100 0.06217 0.06 0.96 None None None None None None CCDC7|0.005449004|85.28%

CCSER2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs148282462
dbSNP Clinvar
86131036 205.98 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.00819 0.00819 0.00700 None None None None None None CCSER2|0.215843444|34.91%

CDH23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs10999947
dbSNP Clinvar
73434906 472.52 G A PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE None 0.25240 0.25240 0.24988 0.53 0.02 None None None None None None CDH23|0.499757104|15.83%
View manuela_niro 10 rs111033289
dbSNP Clinvar
73560497 124.59 C T PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.03974 0.03974 0.01286 None None None None None None CDH23|0.499757104|15.83%

CDHR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs764520994
dbSNP Clinvar
85972127 130.76 G C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.14 None None None None None None CDHR1|0.082182972|54.74%

CHAT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs41306415
dbSNP Clinvar
50824106 207.73 C T PASS 0/1 80 None None None 0.00539 0.00539 0.00884 0.00 0.86 None None None None None None CHAT|0.652613184|10%
View manuela_niro 10 rs1880676
dbSNP Clinvar
50824117 141.28 G A PASS 0/1 80 None None None 0.16154 0.16150 0.18757 0.43 0.01 None None None None None None CHAT|0.652613184|10%
View manuela_niro 10 rs3810950
dbSNP Clinvar
50824619 572.88 G A PASS 0/1 345 NON_SYNONYMOUS_CODING MODERATE None 0.16054 0.16050 0.18238 0.44 0.01 None None None None None None CHAT|0.652613184|10%
View manuela_niro 10 rs80097077
dbSNP Clinvar
50863188 196.89 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.00754 0.05 1.00 None None None None None None CHAT|0.652613184|10%

CHST15

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs28375663
dbSNP Clinvar
125798111 528.71 T C PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.11861 0.11860 0.16577 None None None None None None CHST15|0.068665566|57.81%

CNNM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs76057237
dbSNP Clinvar
104678350 37.08 G A PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.03195 0.03195 0.04262 0.31 0.00 None None None None None None CNNM2|0.39099659|21.34%

COL13A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2274181
dbSNP Clinvar
71678058 145.02 C G PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.21406 0.21410 0.17367 None None None None None None COL13A1|0.288371084|28.5%

COL17A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs137868472
dbSNP Clinvar
105824290 250.21 G A PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00215 None None None None None None COL17A1|0.220252717|34.39%

CPEB3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3740302
dbSNP Clinvar
93999562 33.2 T A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.26218 0.26220 None None None None None None CPEB3|0.570636811|12.96%

CPXM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs1219725
dbSNP Clinvar
125528048 212.83 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.31309 None None None None None None CPXM2|0.079939383|55.19%

CRTAC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs56007204
dbSNP Clinvar
99625319 98.25 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.07907 0.07907 0.16185 0.00 0.31 None None None None None None GOLGA7B|0.177873742|39.32%,CRTAC1|0.403519076|20.55%

CSGALNACT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs2435381
dbSNP Clinvar
43678796 1375.49 C T PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.15855 0.15850 0.19983 0.31 0.14 None None None None None None CSGALNACT2|0.333136707|25.23%

CSTF2T

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View manuela_niro 10 rs3824686
dbSNP Clinvar
53458167 180.86 C T PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.09085 0.09085 0.06251 None None None None None None PRKG1|0.985137344|1.27%,CSTF2T|0.077725548|55.73%
View manuela_niro 10 rs3740228
dbSNP Clinvar
53458047 234.02 A G PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.24980 0.24980 0.21975 None None None None None None PRKG1|0.985137344|1.27%,CSTF2T|0.077725548|55.73%